Associated Papers
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Stevens CAT et al.
Journal of the American Heart Association, 2024
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Bioinformatics (oxford, England), 2024
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Biorxiv : the Preprint Server for Biology, 2023
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.
Chaudhry A et al.
Circulation. Genomic and Precision Medicine, 2023
Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.
Resdal Dyssekilde J et al.
Journal of the American Heart Association, 2022
Pilot study of universal screening of children and child-parent cascade testing for familial hypercholesterolaemia in Australia.
Martin AC et al.
Journal of Paediatrics and Child Health, 2022
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genotype-guided diagnosis in familial hypercholesterolemia: clinical management and concerns.
Hopkins PN et al.
Current Opinion in Lipidology, 2017
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Sánchez-Hernández RM et al.
Circulation. Cardiovascular Genetics, 2016
Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.
Strøm TB et al.
Human Molecular Genetics, 2015
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
Jannes CE et al.
Atherosclerosis, 2015
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
Futema M et al.
Journal of Medical Genetics, 2014
Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation.
Alonso R et al.
Journal of the American College of Cardiology, 2014
Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.
Kindt I et al.
Cholesterol, 2013
Molecular characterization of familial hypercholesterolemia in Spain.
Palacios L et al.
Atherosclerosis, 2012
Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.
Vaca G et al.
Atherosclerosis, 2011
Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes.
Huijgen R et al.
Circulation. Cardiovascular Genetics, 2011
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
van der Graaf A et al.
Circulation, 2011
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
Huijgen R et al.
Human Mutation, 2010
Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.
Civeira F et al.
Journal of the American College of Cardiology, 2008
Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors.
Alonso R et al.
Atherosclerosis, 2008
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P et al.
Human Mutation, 2004
Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.
Alonso R et al.
Journal of Clinical Lipidology, 0
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting.
Martín-Campos JM et al.
Journal of Clinical Lipidology, 0
The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study.
Luirink IK et al.
Journal of Clinical Lipidology, 0